TREATMENT WITH MCT MILK FOR A PATIENT WITH MILDER
CHILD FORM OF VLCAD DEFICIENCY
Hayashi K, Doi T, Abo W.
Aomori Central Hospital, Aomori, Japan
Introduction: Milder child form is
one of the three forms of VLCAD (very long-chain acyl-CoA dehydrogenase)
deficiency, others are severe childhood form and adult form. In the milder
child form, characterized by a later onset of symptoms, the main features
are hypoketotic hypoglycemia and rarely cardiomyopathy.
Case report: Our patient was an
8-year-old Japanese boy with milder child form of VLCAD deficiency. He had
admitted for 11 times in his life. Almost all times, he presented vomiting,
poor appetite and severe malaise, but he never showed ketonuria. Blood data
showed elevated serum AST, ALT and CK levels. Study of the patient�s cultured skin fibroblasts revealed that his acyl-CoA
dehydrogenase activity was low at 13% of the control value.
Treatment: The patient was
treated with only L-carnitine (45 mg/kg /day), but not dietary MCT milk
during the 1 month after establishing the diagnosis of VLCAD deficiency.
During this period the patient had several episodes of lethargy, muscle
weakness, and muscle pain, especially after exercise. So, we added 1.5
g/kg/day of MCT milk. After supplementation of MCT milk, his fatty liver
and cardiac function were almost getting normal. Furthermore, we gained the
MCT milk 3 g/kg/day and then his condition was getting better.
Conclusion: MCT milk was very
effective for this patient with milder form of VLCAD deficiency.